cutis laxa, autosomal recessive, type 1d
MONDO:0958335Mondo
Findings
No curated finding names cutis laxa, autosomal recessive, type 1d yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Accelerated skeletal maturationHPOHP:0005616
- 3 of 3 reported patients
- ArachnodactylyHPOHP:0001166
- 3 of 3 reported patients
- AstigmatismHPOHP:0000483
- 2 of 2 reported patients
- BlepharochalasisHPOHP:0010749
- 1 of 1 reported patient
- Colonic diverticulaHPOHP:0002253
- 2 of 2 reported patients
- Congenital diaphragmatic herniaHPOHP:0000776
- 2 of 2 reported patients
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- Dermal translucencyHPOHP:0010648
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 3 reported patients
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- Dural ectasiaHPOHP:0100775
- 1 of 1 reported patient
- Ectropion of lower eyelidsHPOHP:0007651
- 3 of 3 reported patients
Show the remaining 33
- Femoral herniaHPOHP:0100541
- 1 of 1 reported patient
- Gastric diverticulumHPOHP:0100808
- 2 of 2 reported patients
- High anterior hairlineHPOHP:0009890
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 2 of 2 reported patients
- Inguinal herniaHPOHP:0000023
- 4 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EFEMP1HGNC:3218
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · Ambry Genetics · Autosomal recessive · 2024